CLASP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 155658	GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1	C1QL2, C2orf76 +92 more	Copy number loss	See cases	GPathogenic
Select item 3057779	NM_001395891.1(CLASP1):c.*2G>A	CLASP1	Single nucleotide variant (3 prime UTR variant)	CLASP1-related disorder	GLikely benign
Select item 3267507	NM_001395891.1(CLASP1):c.4216G>A (p.Ala1406Thr)	CLASP1 (A1318T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056867	NM_001395891.1(CLASP1):c.4198G>A (p.Ala1400Thr)	CLASP1 (A1311T +6 more)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GUncertain significance
Select item 3145295	NM_001395891.1(CLASP1):c.4160C>T (p.Ala1387Val)	CLASP1 (A1299V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051255	NM_001395891.1(CLASP1):c.4140+10del	CLASP1	Deletion (intron variant)	CLASP1-related disorder	GLikely benign
Select item 2600781	NM_001395891.1(CLASP1):c.4070G>A (p.Ser1357Asn)	CLASP1 (S1357N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145294	NM_001395891.1(CLASP1):c.4007A>G (p.Asn1336Ser)	CLASP1 (N1247S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145293	NM_001395891.1(CLASP1):c.3952C>T (p.Pro1318Ser)	CLASP1 (P1318S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785851	NM_001395891.1(CLASP1):c.3900C>T (p.Thr1300=)	CLASP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3267500	NM_001395891.1(CLASP1):c.3892G>A (p.Asp1298Asn)	CLASP1 (D1210N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043713	NM_001395891.1(CLASP1):c.3861G>A (p.Pro1287=)	CLASP1	Single nucleotide variant (synonymous variant)	CLASP1-related disorder	GLikely benign
Select item 3033199	NM_001395891.1(CLASP1):c.3860C>T (p.Pro1287Leu)	CLASP1 (P1198L +6 more)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GLikely benign
Select item 3267503	NM_001395891.1(CLASP1):c.3841C>T (p.Arg1281Trp)	CLASP1 (R1199W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145292	NM_001395891.1(CLASP1):c.3782C>T (p.Ala1261Val)	CLASP1 (A1181V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532898	NM_001395891.1(CLASP1):c.3775C>T (p.Arg1259Trp)	CLASP1 (R1171W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145290	NM_001395891.1(CLASP1):c.3751G>C (p.Gly1251Arg)	CLASP1 (G1169R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037345	NM_001395891.1(CLASP1):c.3740C>A (p.Thr1247Asn)	CLASP1 (T1158N +6 more)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GBenign
Select item 3267502	NM_001395891.1(CLASP1):c.3712C>T (p.Arg1238Cys)	CLASP1 (R1158C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145289	NM_001395891.1(CLASP1):c.3671C>A (p.Pro1224Gln)	CLASP1 (P1135Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037069	NM_001395891.1(CLASP1):c.3653A>T (p.Gln1218Leu)	CLASP1 (Q1129L +6 more)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GUncertain significance
Select item 1299446	NM_001395891.1(CLASP1):c.3620C>T (p.Thr1207Ile)	CLASP1 (T1118I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2273029	NM_001395891.1(CLASP1):c.3611G>A (p.Arg1204His)	CLASP1 (R1124H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048173	NM_001395891.1(CLASP1):c.3462C>T (p.Asp1154=)	CLASP1	Single nucleotide variant (synonymous variant +1 more)	CLASP1-related disorder	GLikely benign
Select item 2523746	NM_001395891.1(CLASP1):c.3445T>C (p.Trp1149Arg)	CLASP1 (W1149R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145288	NM_001395891.1(CLASP1):c.3439C>T (p.Arg1147Trp)	CLASP1 (R1126W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621743	NM_001395891.1(CLASP1):c.3356G>A (p.Arg1119Gln)	CLASP1 (R1098Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541668	NM_001395891.1(CLASP1):c.3227C>G (p.Thr1076Ser)	CLASP1 (T1033S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633759	NM_001395891.1(CLASP1):c.3166A>G (p.Lys1056Glu)	CLASP1 (K1006E +6 more)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GUncertain significance
Select item 3145286	NM_001395891.1(CLASP1):c.3110A>G (p.Asn1037Ser)	CLASP1 (N994S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145285	NM_001395891.1(CLASP1):c.2938G>A (p.Val980Ile)	CLASP1 (V937I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554722	NM_001395891.1(CLASP1):c.2706C>G (p.Asn902Lys)	CLASP1 (N902K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145284	NM_001395891.1(CLASP1):c.2608C>G (p.His870Asp)	CLASP1 (H827D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058136	NM_001395891.1(CLASP1):c.2601C>T (p.Gly867=)	CLASP1	Single nucleotide variant (synonymous variant)	CLASP1-related disorder	GLikely benign
Select item 3145283	NM_001395891.1(CLASP1):c.2456C>T (p.Thr819Ile)	CLASP1 (T762I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145282	NM_001395891.1(CLASP1):c.2443C>A (p.Leu815Met)	CLASP1 (L794M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267506	NM_001395891.1(CLASP1):c.2269A>G (p.Ser757Gly)	CLASP1 (S757G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145281	NM_001395891.1(CLASP1):c.2244G>A (p.Met748Ile)	CLASP1 (M748I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713573	NM_001395891.1(CLASP1):c.2243T>C (p.Met748Thr)	CLASP1 (M748T)	Single nucleotide variant (missense variant +1 more)	CLASP1-related disorder +1 more	GLikely benign
Select item 2600378	NM_001395891.1(CLASP1):c.2215C>T (p.Arg739Trp)	CLASP1 (R739W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717192	NM_001395891.1(CLASP1):c.2136G>A (p.Pro712=)	CLASP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2521021	NM_001395891.1(CLASP1):c.2125C>T (p.Pro709Ser)	CLASP1 (P709S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145280	NM_001395891.1(CLASP1):c.2117G>A (p.Arg706Gln)	CLASP1 (R713Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145278	NM_001395891.1(CLASP1):c.2093G>A (p.Gly698Asp)	CLASP1 (G706D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145277	NM_001395891.1(CLASP1):c.2083A>G (p.Ser695Gly)	CLASP1 (S702G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145276	NM_001395891.1(CLASP1):c.1990C>T (p.Arg664Cys)	CLASP1, LOC126806337 (R664C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145275	NM_001395891.1(CLASP1):c.1955A>G (p.Asn652Ser)	CLASP1, LOC126806337 (N652S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145274	NM_001395891.1(CLASP1):c.1931G>A (p.Arg644Gln)	CLASP1, LOC126806337 (R660Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145272	NM_001395891.1(CLASP1):c.1750G>A (p.Val584Ile)	CLASP1 (V584I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145271	NM_001395891.1(CLASP1):c.1637T>C (p.Ile546Thr)	CLASP1 (I546T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602086	NM_001395891.1(CLASP1):c.1633A>G (p.Ser545Gly)	CLASP1 (S545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651323	NM_001395891.1(CLASP1):c.1602A>G (p.Lys534=)	CLASP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059617	NM_001395891.1(CLASP1):c.1311T>C (p.Ile437=)	CLASP1	Single nucleotide variant (synonymous variant)	CLASP1-related disorder	GBenign
Select item 3034723	NM_001395891.1(CLASP1):c.1302G>A (p.Arg434=)	CLASP1	Single nucleotide variant (synonymous variant)	CLASP1-related disorder	GLikely benign
Select item 3267504	NM_001395891.1(CLASP1):c.1264G>A (p.Ala422Thr)	CLASP1 (A422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145270	NM_001395891.1(CLASP1):c.1240A>C (p.Ile414Leu)	CLASP1 (I414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234535	NM_001395891.1(CLASP1):c.1076A>G (p.Tyr359Cys)	CLASP1 (Y359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042897	NM_001395891.1(CLASP1):c.794G>C (p.Ser265Thr)	CLASP1 (S265T)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GBenign
Select item 2607150	NM_001395891.1(CLASP1):c.746G>A (p.Gly249Asp)	CLASP1 (G249D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634827	NM_001395891.1(CLASP1):c.692A>G (p.Asn231Ser)	CLASP1 (N231S)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GUncertain significance
Select item 3145296	NM_001395891.1(CLASP1):c.638A>T (p.Gln213Leu)	CLASP1 (Q213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267508	NM_001395891.1(CLASP1):c.467A>T (p.Asn156Ile)	CLASP1 (N156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145291	NM_001395891.1(CLASP1):c.368C>T (p.Ala123Val)	CLASP1 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631594	NM_001395891.1(CLASP1):c.340C>G (p.Leu114Val)	CLASP1 (L114V)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GUncertain significance
Select item 2611135	NM_001395891.1(CLASP1):c.338C>T (p.Thr113Ile)	CLASP1 (T113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1202360	NM_001395891.1(CLASP1):c.196-292G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183560	NM_001395891.1(CLASP1):c.196-312G>A	RNU4ATAC, CLASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192748	NM_001395891.1(CLASP1):c.196-356A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236574	NM_001395891.1(CLASP1):c.196-506G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242503	NM_001395891.1(CLASP1):c.196-514A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274763	NM_001395891.1(CLASP1):c.196-544G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	RNU4ATAC-related disorder +2 more	GBenign
Select item 3058046	NM_001395891.1(CLASP1):c.196-548G>C	CLASP1	Single nucleotide variant (intron variant)	CLASP1-related disorder	GLikely benign
Select item 3033988	NM_001395891.1(CLASP1):c.196-554A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	CLASP1-related disorder +1 more	GLikely benign
Select item 1917117	NM_001395891.1(CLASP1):c.196-555T>C	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1508358	NM_001395891.1(CLASP1):c.196-556T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1350450	NM_001395891.1(CLASP1):c.196-556T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915864	NM_001395891.1(CLASP1):c.196-557G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1483074	NM_001395891.1(CLASP1):c.196-557G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1471101	NM_001395891.1(CLASP1):c.196-558G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1978446	NM_001395891.1(CLASP1):c.196-559T>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1045423	NM_001395891.1(CLASP1):c.196-559T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 932367	NM_001395891.1(CLASP1):c.196-559T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1498575	NM_001395891.1(CLASP1):c.196-561_196-560delinsAT	CLASP1, RNU4ATAC	Indel (intron variant)	not provided	GUncertain significance
Select item 873520	NM_001395891.1(CLASP1):c.196-560A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	RNU4ATAC-related spliceosomopathies +1 more	GConflicting classifications of pathogenicity
Select item 1366874	NM_001395891.1(CLASP1):c.196-561G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1944546	NM_001395891.1(CLASP1):c.196-562G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 692040	NM_001395891.1(CLASP1):c.196-562G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Lowry-Wood syndrome	GLikely pathogenic
Select item 218086	NM_001395891.1(CLASP1):c.196-562G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia congenita +8 more	GConflicting classifications of pathogenicity
Select item 1916491	NM_001395891.1(CLASP1):c.196-564A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915970	NM_001395891.1(CLASP1):c.196-566_196-565insT	CLASP1, RNU4ATAC	Insertion (intron variant)	not provided	GUncertain significance
Select item 1913571	NM_001395891.1(CLASP1):c.196-565A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1506418	NM_001395891.1(CLASP1):c.196-565A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1472329	NM_001395891.1(CLASP1):c.196-567_196-565del	CLASP1, RNU4ATAC	Deletion (intron variant)	not provided	GUncertain significance
Select item 1911008	NM_001395891.1(CLASP1):c.196-566A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1506268	NM_001395891.1(CLASP1):c.196-566A>T	RNU4ATAC, CLASP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1479614	NM_001395891.1(CLASP1):c.196-566A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2151940	NM_001395891.1(CLASP1):c.196-567G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 218083	NM_001395891.1(CLASP1):c.196-567G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	RNU4ATAC-related disorder +4 more	GPathogenic/Likely pathogenic

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